The Outcome of Infantile Onset Pompe Disease in South of Iran

Background: Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients’ survival is improved to a noticeable extent. Objectives: The purpose of this study is to examine the outcome of IOPD patients in South of Iran and the degree of responsiveness to ERT. Patients and Methods: All patients who were diagnosed with IOPD on the bases of clinical symptoms, and enzyme assay on dried blood spot, were included in the study; and were followed up regarding cardiac function, locomotor activity, and cognition. Results: Six patients with IOPD were identified. All these six patients suffered from Hypertrophic Cardiomyopathy (HCM). Four (67%) of them also had generalized hypotonia. Three patients expired during the first weeks due to severe respiratory infection. One of them also got involved with Acute Cardiopulmonary Failure while receiving the fifth dose of ERT; and expired. However, the remaining two patients had a significant improvement after the maximum of 117 weeks of following up both cardiac and locomotor findings. These two patients were the same patients who showed cardiac symptoms from the beginning but did not have generalized hypotonia. Conclusions: Although ERT has a significant effect on enhancing the survival of IOPD patients, it should be associated with meticulous heart-respiratory cares during the first months of treatment and preventing infection especially nosocomial infections.

Viability of probiotic bacteria and some chemical and sensory characteristics in cornelian cherry juice during cold storage

Background: Increased popularity of vegetarianism, lactose intolerance, and the high cholesterol content in dairy products, are all factors that have recently increased the demand for nondairy probiotic products. The objective of this study is to evaluate the effect of refrigeration on the viability of probiotics and asses someof the chemical and sensory characteristics in cornelian cherry juice. Results: The Iranian native probiotic strain (L. casei T4) showed greater viability compared to industrial types (viable count of 8.67 log cfu/mL versus <6.0 log cfu/mL at d 28). However, this most tolerant Iranian strain, could not withstand the conditions of ‘Natural juice’ at pH 2.6 for more than 7 d. Following a pH adjusted treatment (to pH ~3.5), the viability of the strain was improved to 28 d with some evidence of increased growth of the probiotic. However, the level of antioxidant activity, anthocyanin and phenolic compounds, revealed a slight decrease during cold storage. The changes in the chemical profile of the sample containing L. casei T4 indicated fermentation activity during cold storage. Sensory evaluation results showed significant differences between samples containing L. casei TD4 and other samples in taste, odor and overall acceptance in a complimentary way. Conclusions: The results showed that low pH and presence of inhibitor phenolic compounds of cornelian cherry juice have negative effect on viability of probiotics, especially industrial strains during refrigerated storage.